ANALYSIS OF THE ASSOCIATION OF rs1333049-POLYMORPHIC VARIANTS OF THE ANRIL GENE WITH THE DEVELOPMENT OF CLEAR CELL RENAL CELL CARCINOMA IN UKRAINIAN POPULATION
1
Physiology and Pathophysiology with a Course in Medical Biology, Sumy State University, Ukraine
2
Urology and Oncology Department, Sumy Regional Clinical Oncology Center, Ukraine
3
Scientific Laboratory of Molecular Genetic Research, Sumy State University, Ukraine
These authors had equal contribution to this work
Submission date: 2025-02-20
Acceptance date: 2025-04-14
Publication date: 2025-10-28
Corresponding author
Wiadomości Lekarskie 2025;(9):1805-1812
KEYWORDS
TOPICS
ABSTRACT
Aim:
The study aimed to assess the association between rs1333049 polymorphic variants of the ANRIL gene and the development of clear cell renal cell carcinoma in the Ukrainian population.
Material and methods:
Venous blood from 201 individuals was analyzed, including 101 ccRCC patients (42 women, 59 men) and 100 cancer-free controls (34 women, 66 men). ANRIL rs1333049 genotyping was performed using real-time PCR, with statistical analysis conducted via Prism (v10.4.1) and R (v4.4.2).
Results:
The rs1333049 genotype distribution in ccRCC patients was GG – 16 (15.8%), GC – 50 (49.5%), CC – 35 (34.7%); in controls: 28 (28%), 49 (49%), 23 (23%) (P=0.0561). The C allele was more frequent in ccRCC patients (P=0.0167). In the dominant model, GC+CC carriers had a 2.066-fold higher risk than GG homozygotes (P=0.0392). No genotype differences were found between sexes in controls (P=0.39), but allele distribution differed in male and female ccRCC patients (P=0.0105). In the recessive model, males with CC had a 2.5-fold higher ccRCC risk (P=0.02). Kaplan-Meier analysis found no effect of rs1333049 on overall survival.
Conclusions:
The rs1333049 polymorphism of the ANRIL gene increases ccRCC risk. GC and CC genotypes raise risk 2.07-fold (P=0.0392), up to 3.1-fold (P=0.040) after adjustments. In males, CC genotype increases risk 2.5-fold (P=0.02) and 3.12-fold (P=0.05) after adjustments. No link to overall survival was found (P=0.4321).
The study aimed to assess the association between rs1333049 polymorphic variants of the ANRIL gene and the development of clear cell renal cell carcinoma in the Ukrainian population.
Material and methods:
Venous blood from 201 individuals was analyzed, including 101 ccRCC patients (42 women, 59 men) and 100 cancer-free controls (34 women, 66 men). ANRIL rs1333049 genotyping was performed using real-time PCR, with statistical analysis conducted via Prism (v10.4.1) and R (v4.4.2).
Results:
The rs1333049 genotype distribution in ccRCC patients was GG – 16 (15.8%), GC – 50 (49.5%), CC – 35 (34.7%); in controls: 28 (28%), 49 (49%), 23 (23%) (P=0.0561). The C allele was more frequent in ccRCC patients (P=0.0167). In the dominant model, GC+CC carriers had a 2.066-fold higher risk than GG homozygotes (P=0.0392). No genotype differences were found between sexes in controls (P=0.39), but allele distribution differed in male and female ccRCC patients (P=0.0105). In the recessive model, males with CC had a 2.5-fold higher ccRCC risk (P=0.02). Kaplan-Meier analysis found no effect of rs1333049 on overall survival.
Conclusions:
The rs1333049 polymorphism of the ANRIL gene increases ccRCC risk. GC and CC genotypes raise risk 2.07-fold (P=0.0392), up to 3.1-fold (P=0.040) after adjustments. In males, CC genotype increases risk 2.5-fold (P=0.02) and 3.12-fold (P=0.05) after adjustments. No link to overall survival was found (P=0.4321).
| eISSN: | 2719-342X |
| ISSN: | 0043-5147 |
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